Table 1.
Mutations in the FATP4 gene identified in probands from five IPS families.
| Patient family ID | Exon | Nucleotide change | Amino-acid change | Zygosity | Origin |
|---|---|---|---|---|---|
| IR85 | exon3 exon7 |
c.504c>a c.899a > g |
p.C168X* p.Q300R* |
compound heterozygous | Norway |
| IR125 | exon2 exon3 |
c.103g>t c.504c > a |
p.G35X p.C168X* |
compound heterozygous | Norway |
| 25187 | exon3 exon10 |
c.504c>a c.1430t > a |
p.C168X* p.V477D |
compound heterozygous | Norway |
| 25291 | exon3 | c.504c > a | p.C168X* | homozygous | Iceland |
| DA1 | exon3 exon11 |
c.504c>a c.1511 g > a |
p.C168X* p.R504H |
compound heterozygous | Denmark |
Family origin and zygosity of the identified mutations. The nucleotide and amino-acid change is indicated and the corresponding exon. *denotes previously published in Klar et al 2009.